MTHFR基因C677T位点多态性、Hcy和一碳代谢相关B族维生素与GDM的相关性

doi:10.3969/j.issn.1673-8640.2026.07.009

摘要/Abstract

摘要：

目的探讨亚甲基四氢叶酸还原酶（MTHFR）基因C677T位点多态性、同型半胱氨酸（Hcy）和一碳代谢（OCM）相关的B族维生素[维生素B₆（Vit B₆）、维生素B₉（叶酸）和维生素B₁₂（Vit B₁₂）]水平与妊娠期糖尿病（GDM）的相关性。方法选取2023年1月—2024年1月复旦大学附属妇产科医院自然受孕的孕妇651例，根据是否确诊GDM分为GDM组（92例）和对照组（559例）。检测所有研究对象MTHFR基因C677T位点多态性和Hcy、Vit B₆、叶酸、Vit B₁₂水平。采用二元多因素Logistic回归分析评估GDM发生的危险因素。结果 GDM组MTHFR基因C677T位点CT型、TT型和T等位基因比例均高于对照组（P<0.05）。GDM组血清Hcy和叶酸水平高于对照组（P<0.05）。GDM组TT型孕妇血清Hcy水平高于CC型、CT型孕妇（P<0.05），CC型与CT型孕妇之间血清Hcy水平差异无统计学意义（P>0.05）。对照组CC型孕妇血清Hcy水平显著低于CT型、TT型孕妇（P<0.001），CT型和TT型孕妇之间血清Hcy水平差异无统计学意义（P>0.05）。Hcy和叶酸升高均是GDM发生的独立危险因素[比值比（OR）值分别为1.293、1.160，95%可信区间（CI）分别为1.014~1.649、1.041~1.294，P<0.05]。结论受MTHFR基因C677T位点多态性影响的血清Hcy和叶酸水平与GDM的发生密切相关。进行MTHFR C677T位点多态性检测有助于GDM的预防和管理。

关键词: 亚甲基四氢叶酸还原酶, 基因多态性, 同型半胱氨酸, 一碳代谢相关B族维生素, 妊娠期糖尿病

Abstract:

Objective To investigate the correlation between the C677T polymorphism of methylene tetrahydrofolate reductase（MTHFR） gene，homocysteine（Hcy） and one-carbon metabolism related B vitamins [vitamin B₆（Vit B₆），vitamin B₉（folic acid） and vitamin B₁₂（Vit B₁₂）] and gestational diabetes mellitus（GDM）. Methods A total of 651 pregnant women who conceived naturally at the Obstetrics and Gynecology Hospital of Fudan University from January 2023 to January 2024 were enrolled and classified into GDM group（92 cases） and control group（559 cases） based on whether they were diagnosed with GDM. The C677T polymorphism of MTHFR gene and Hcy，Vit B₆，folic acid and Vit B₁₂ levels were determined. Binary multivariate Logistic regression analysis was used to evaluate the risk factors for the occurrence of GDM. Results The proportions of C677T CT and TT genotypes and the T allele in GDM group were higher than those in control group（P<0.05）. The serum Hcy and folic acid levels in GDM group were higher than those in control group（P<0.05）. The serum Hcy level in TT genotype pregnant women in GDM group was higher than those in CC and CT genotype pregnant women（P<0.05），and there was no statistical significance in serum Hcy levels between CC and CT genotype pregnant women（P>0.05）. The serum Hcy level in CC genotype pregnant women in control group was lower than those in CT and TT genotype pregnant women（P<0.001），and there was no statistical significance in serum Hcy levels between CT and TT genotype pregnant women（P>0.05）. Elevated Hcy and folic acid were independent risk factors for the occurrence of GDM [odds ratios（OR） were 1.293 and 1.160，95% confidence intervals（CI） were 1.014-1.649 and 1.041-1.294，respectively，P<0.05]. Conclusions Serum Hcy and folic acid levels affected by the C677T polymorphism of MTHFR gene are related to the occurrence of GDM. The determination of the MTHFR gene C677T polymorphism is helpful for the prevention and management of GDM.

Key words: Methylene tetrahydrofolate reductase, Gene polymorphism, Homocysteine, One-carbon metabolism related B vitamin, Gestational diabetes mellitus

中图分类号:

Q554

王强, 陆娄恺奕, 罗许凡, 陈艺升. MTHFR基因C677T位点多态性、Hcy和一碳代谢相关B族维生素与GDM的相关性[J]. 检验医学, 2026, 41(7): 670-675.

WANG Qiang, LU Loukaiyi, LUO Xufan, CHEN Yisheng. Correlation between MTHFR gene C677T polymorphism，Hcy，one-carbon metabolism related B vitamins and gestational diabetes mellitus[J]. Laboratory Medicine, 2026, 41(7): 670-675.

图/表 5

参考文献 35

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组别	例数	基因型分布			等位基因频率
组别	例数	CC/[例（%）]	CT/[例（%）]	TT/[例（%）]	C/[例（%）]	T/[例（%）]
GDM组	92	17（18.48）	52（56.52）	23（25.00）	86（46.74）	98（53.26）
对照组	559	180（32.20）	264（47.23）	115（20.57）	624（55.81）	494（44.19）
统计值		7.052			5.248
P值		0.029			0.025

组别	例数	基因型分布			等位基因频率
组别	例数	CC/[例（%）]	CT/[例（%）]	TT/[例（%）]	C/[例（%）]	T/[例（%）]
GDM组	92	17（18.48）	52（56.52）	23（25.00）	86（46.74）	98（53.26）
对照组	559	180（32.20）	264（47.23）	115（20.57）	624（55.81）	494（44.19）
统计值		7.052			5.248
P值		0.029			0.025

组别	例数	学历		孕次			产次		流产史/例
组别	例数	本科以下/例	本科及以上/例	<3次/例	≥3次/例		<2次/例	≥2次/例	流产史/例
GDM组	92	20	72	79	13		92	0	25
对照组	559	97	462	502	57		555	4	124
统计值		1.031		1.274			0.662		1.115
P值		0.307		0.275			1.000		0.287
组别	年龄/岁	孕周/周	Hcy/（μmol·L^-1）	Vit B₆ /（nmol·L^-1）		叶酸/（nmol·L^-1）		Vit B₁₂/（pmol·L^-1）
GDM组	30.73±2.63	26.08±0.96	6.08±0.86	90.32±27.14		14.47±2.66		273.65±88.57
对照组	30.36±2.45	25.96±0.88	5.84±0.88	86.49±32.96		13.89±1.81		291.56±84.08
统计值	-1.323	-1.148	-2.372	-1.056		-2.016		1.879
P值	0.186	0.251	0.018	0.291		0.046		0.061

组别	例数	学历		孕次			产次		流产史/例
组别	例数	本科以下/例	本科及以上/例	<3次/例	≥3次/例		<2次/例	≥2次/例	流产史/例
GDM组	92	20	72	79	13		92	0	25
对照组	559	97	462	502	57		555	4	124
统计值		1.031		1.274			0.662		1.115
P值		0.307		0.275			1.000		0.287
组别	年龄/岁	孕周/周	Hcy/（μmol·L^-1）	Vit B₆ /（nmol·L^-1）		叶酸/（nmol·L^-1）		Vit B₁₂/（pmol·L^-1）
GDM组	30.73±2.63	26.08±0.96	6.08±0.86	90.32±27.14		14.47±2.66		273.65±88.57
对照组	30.36±2.45	25.96±0.88	5.84±0.88	86.49±32.96		13.89±1.81		291.56±84.08
统计值	-1.323	-1.148	-2.372	-1.056		-2.016		1.879
P值	0.186	0.251	0.018	0.291		0.046		0.061

组别	例数	Hcy/（μmol·L^-1）	叶酸/（nmol·L^-1）	Vit B₆ /（nmol·L^-1）	Vit B₁₂ /（pmol·L^-1）
GDM组	92
CC型	17	5.86±0.62	14.65±2.92	86.19±29.22	287.09±93.93
CT型	52	5.98±0.72	14.45±2.54	90.96±27.76	278.43±89.84
TT型	23	6.47±1.18^*	14.36±2.83	91.91±24.95	252.90±81.70
F值		3.420	0.060	0.247	0.901
P值		0.037	0.941	0.782	0.410
对照组	559
CC型	180	5.61±0.77	13.89±1.80	88.50±34.97	289.18±88.40
CT型	264	5.93±0.88^*	13.83±1.84	84.07±31.23	296.21±79.52
TT型	115	6.02±0.97^*	14.02±1.76	88.89±33.52	284.60±87.42
F值		9.982	0.465	1.351	0.869
P值		<0.001	0.629	0.260	0.420